Test ID DRPL Dentatorubral-Pallidoluysian Atrophy (DRPLA) Gene Analysis, Varies
Useful For
Molecular confirmation of a diagnosis of dentatorubral-pallidoluysian atrophy (DRPLA) for symptomatic patients
Predictive testing for individuals with a family history of DRPLA and a documented expansion in the ATN1 gene in an affected family member
Method Name
Polymerase Chain Reaction (PCR)
Reporting Name
DRPLA Gene AnalysisSpecimen Type
VariesShipping Instructions
Specimen preferred to arrive within 96 hours of draw.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Ambient (preferred) | ||
Frozen | |||
Refrigerated |
Reference Values
Normal alleles: 7-35 CAG repeats
Abnormal alleles: 49-93 CAG repeats
An interpretive report will be provided.
Day(s) and Time(s) Performed
Tuesday; 2 p.m.
Performing Laboratory

CPT Code Information
81177-ATN1 (ataxin 2) (eg, denatatorubral-pallidolyuysian atrophy) gene analysis, evaluation to detect abnormal (eg, expanded) alleles
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
DRPL | DRPLA Gene Analysis | In Process |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
53234 | Result Summary | 50397-9 |
53235 | Result | 49631-5 |
53236 | Interpretation | 69047-9 |
53237 | Specimen | 31208-2 |
53238 | Source | 31208-2 |
53239 | Released By | 18771-6 |
NY State Approved
YesSpecial Instructions
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Molecular Genetics: Neurology Patient Information in Special Instructions.
3. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen.